Patient Profile: Life With Liam

November 20, 2013

Family finds hope at Franciscan Hospital

 

Life with Liam

 

In an infant hospital bed at Franciscan Hospital for Children, 8-month-old Liam Medina brightens up the room with his laughter, despite being born with multiple pterygium syndrome—a rare disease, also known as Escobar syndrome, that causes webbing of the skin at the joints and restricted joint and muscle movement.

The webbing of patients with multiple pterygium syndrome typically affects the skin of the neck, fingers, forearms, thighs and backs of the knee. A side-to-side curvature of the spine is sometimes seen, as well as respiratory distress at birth due to undeveloped lungs and restricted rib movement. The condition, which can be diagnosed in utero, is inherited in a recessive pattern, with both parents carrying one copy of the mutated gene.

Liam was diagnosed when his mother, Dr. Laura Aleman, was 28 weeks pregnant and underwent an ultrasound at Brigham and Women’s Hospital.

“They recognized something right away,” said Aleman, a native of Honduras, where she works as a hospital physician. She and her husband, Walter Medina, temporarily moved to the U.S. during her pregnancy. The couple has a healthy older son, age 6.

Aleman gave birth to Liam at Brigham and Women’s last winter. He immediately required ventilator support because he was having trouble breathing on his own. After a week, he was transferred to Boston Children’s Hospital, where he remained in the neonatal intensive care unit for a month. He underwent two surgeries—one to insert a feeding tube and one to insert a breathing tube, also known as a tracheostomy tube. When he was ready to transition to rehabilitative care, he was transferred to Franciscan Hospital for Children where he has been since March of this year.

As the leading pediatric rehabilitation hospital in New England, Franciscan Hospital for Children offers medical, behavioral and educational services for children with complex issues requiring multidisciplinary care.

“We knew we would be better taught how to care for him at a rehabilitation hospital,” said Aleman. “Despite being a doctor, all of this was completely new to me. Every different nurse that has taken care of him has been wonderful and taught us so much. We feel well prepared to take him home.”

“Although most of the staff had not previously seen children with multiple pterygium syndrome, the clinical staff was familiar with symptoms like Liam’s,” said Marjorie Jimenez, a physician assistant at Franciscan Hospital. “But no two children are the same, and we’re accustomed to that. Our role is to assess his capabilities, treat his symptoms, and help him to achieve his greatest potential.”

A full team of physicians, nurses, therapists and other specialists have provided daily care to Liam. Through physical therapy, occupational therapy and speech therapy, Liam’s speech and range of motion have greatly improved since his arrival at the hospital. Liam will most likely need orthopedic surgeries for his skeletal deformities as he gets older. Plastic surgery may also be required to correct his webbing.

As part of Franciscan Hospital for Children’s familycentered focus, hospital staff has worked closely with Liam’s family to prepare them for his care at home. It is essential that families are comfortable with the complex medical procedures necessary to keep their child safe at home. In Liam’s case, his family is learning how to care for and change his tracheostomy tube. The hope is that Liam will be stable enough for discharge home in time for the holidays.

“His ventilation has improved,” said Aleman. “He is breathing and eating much better and has started to gain weight. It’s been wonderful – something we can see.”

Jimenez, who has been caring for Liam since his arrival, is thrilled with his progress.

“He’s developed in every way—cognitively and with his breathing and weight gain,” said Jimenez. “He’s laughing and dancing all the time. It’s been a joy to see.”

“He’s become very active and alert here,” said Medina, observing his son. “He is growing, thriving and improving. Franciscan Hospital is in our hearts.”

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